Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy
Gespeichert in:
Veröffentlicht in: | American journal of medical genetics. Part A 2021, Vol.185 (7), p.2180-2189 |
---|---|
Hauptverfasser: | , , , , , , , , , |
Format: | Report |
Sprache: | eng |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 2189 |
---|---|
container_issue | 7 |
container_start_page | 2180 |
container_title | American journal of medical genetics. Part A |
container_volume | 185 |
creator | Haan, Eric A Chamalaun, Francois H Chamuleau, Steven A J Arnolda, Leonard F Slavotinek, John P Wise, Nadia C Gunawardane, Dimuth N Schwarze, Ulrike Byers, Peter H Gabb, Genevieve M |
description | |
doi_str_mv | 10.1002/ajmg.a.62218 |
format | Report |
fullrecord | <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_2516221897</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2516221897</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_25162218973</originalsourceid><addsrcrecordid>eNqVj8FOAjEURRsTExHc-QFv6YIZ2w4DuMWIuNAVe_Jk3nRKOi2-djTEn7cafsDVzU3uOckV4lbJUkmp7_HQmxLLudZqeSFGqq51MVtW1ZW4jvEgZSXrxXwkvl-RW_QQT77h0BMwxcEl6w20uQMCIxMcMXXBkLd7WK_eFHwiW_RpChj3xAmtpwZSx2EwXWaOHN7RN_BlUwcv5nlWMDlMeYOciG349Z0m4rJFF-nmnGNxt37aPm6KjH8MFNOut1nvHHoKQ9zpWv3deVhU_5j-ADCIVzI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>2516221897</pqid></control><display><type>report</type><title>Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy</title><source>Wiley Online Library Journals Frontfile Complete</source><creator>Haan, Eric A ; Chamalaun, Francois H ; Chamuleau, Steven A J ; Arnolda, Leonard F ; Slavotinek, John P ; Wise, Nadia C ; Gunawardane, Dimuth N ; Schwarze, Ulrike ; Byers, Peter H ; Gabb, Genevieve M</creator><creatorcontrib>Haan, Eric A ; Chamalaun, Francois H ; Chamuleau, Steven A J ; Arnolda, Leonard F ; Slavotinek, John P ; Wise, Nadia C ; Gunawardane, Dimuth N ; Schwarze, Ulrike ; Byers, Peter H ; Gabb, Genevieve M</creatorcontrib><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62218</identifier><language>eng</language><ispartof>American journal of medical genetics. Part A, 2021, Vol.185 (7), p.2180-2189</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>776,780,4476,27902</link.rule.ids></links><search><creatorcontrib>Haan, Eric A</creatorcontrib><creatorcontrib>Chamalaun, Francois H</creatorcontrib><creatorcontrib>Chamuleau, Steven A J</creatorcontrib><creatorcontrib>Arnolda, Leonard F</creatorcontrib><creatorcontrib>Slavotinek, John P</creatorcontrib><creatorcontrib>Wise, Nadia C</creatorcontrib><creatorcontrib>Gunawardane, Dimuth N</creatorcontrib><creatorcontrib>Schwarze, Ulrike</creatorcontrib><creatorcontrib>Byers, Peter H</creatorcontrib><creatorcontrib>Gabb, Genevieve M</creatorcontrib><title>Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy</title><title>American journal of medical genetics. Part A</title><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2021</creationdate><recordtype>report</recordtype><recordid>eNqVj8FOAjEURRsTExHc-QFv6YIZ2w4DuMWIuNAVe_Jk3nRKOi2-djTEn7cafsDVzU3uOckV4lbJUkmp7_HQmxLLudZqeSFGqq51MVtW1ZW4jvEgZSXrxXwkvl-RW_QQT77h0BMwxcEl6w20uQMCIxMcMXXBkLd7WK_eFHwiW_RpChj3xAmtpwZSx2EwXWaOHN7RN_BlUwcv5nlWMDlMeYOciG349Z0m4rJFF-nmnGNxt37aPm6KjH8MFNOut1nvHHoKQ9zpWv3deVhU_5j-ADCIVzI</recordid><startdate>20210701</startdate><enddate>20210701</enddate><creator>Haan, Eric A</creator><creator>Chamalaun, Francois H</creator><creator>Chamuleau, Steven A J</creator><creator>Arnolda, Leonard F</creator><creator>Slavotinek, John P</creator><creator>Wise, Nadia C</creator><creator>Gunawardane, Dimuth N</creator><creator>Schwarze, Ulrike</creator><creator>Byers, Peter H</creator><creator>Gabb, Genevieve M</creator><scope>7X8</scope></search><sort><creationdate>20210701</creationdate><title>Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy</title><author>Haan, Eric A ; Chamalaun, Francois H ; Chamuleau, Steven A J ; Arnolda, Leonard F ; Slavotinek, John P ; Wise, Nadia C ; Gunawardane, Dimuth N ; Schwarze, Ulrike ; Byers, Peter H ; Gabb, Genevieve M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_25162218973</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2021</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Haan, Eric A</creatorcontrib><creatorcontrib>Chamalaun, Francois H</creatorcontrib><creatorcontrib>Chamuleau, Steven A J</creatorcontrib><creatorcontrib>Arnolda, Leonard F</creatorcontrib><creatorcontrib>Slavotinek, John P</creatorcontrib><creatorcontrib>Wise, Nadia C</creatorcontrib><creatorcontrib>Gunawardane, Dimuth N</creatorcontrib><creatorcontrib>Schwarze, Ulrike</creatorcontrib><creatorcontrib>Byers, Peter H</creatorcontrib><creatorcontrib>Gabb, Genevieve M</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haan, Eric A</au><au>Chamalaun, Francois H</au><au>Chamuleau, Steven A J</au><au>Arnolda, Leonard F</au><au>Slavotinek, John P</au><au>Wise, Nadia C</au><au>Gunawardane, Dimuth N</au><au>Schwarze, Ulrike</au><au>Byers, Peter H</au><au>Gabb, Genevieve M</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy</atitle><jtitle>American journal of medical genetics. Part A</jtitle><date>2021-07-01</date><risdate>2021</risdate><volume>185</volume><issue>7</issue><spage>2180</spage><epage>2189</epage><pages>2180-2189</pages><eissn>1552-4833</eissn><doi>10.1002/ajmg.a.62218</doi></addata></record> |
fulltext | fulltext |
identifier | EISSN: 1552-4833 |
ispartof | American journal of medical genetics. Part A, 2021, Vol.185 (7), p.2180-2189 |
issn | 1552-4833 |
language | eng |
recordid | cdi_proquest_miscellaneous_2516221897 |
source | Wiley Online Library Journals Frontfile Complete |
title | Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T16%3A52%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Marfan%20syndrome%20resulting%20from%20a%20rare%20pathogenic%20FBN1%20variant,%20ascertained%20through%20a%20proband%20with%20IgG4-related%20arteriopathy&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Haan,%20Eric%20A&rft.date=2021-07-01&rft.volume=185&rft.issue=7&rft.spage=2180&rft.epage=2189&rft.pages=2180-2189&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.62218&rft_dat=%3Cproquest%3E2516221897%3C/proquest%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2516221897&rft_id=info:pmid/&rfr_iscdi=true |